{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T14:02:19Z","timestamp":1790949739685,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T00:00:00Z","timestamp":1597190400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["U24AG021886"],"award-info":[{"award-number":["U24AG021886"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:p>In this case report, we discuss a patient presenting with parkinsonism followed by a non\u2010amnestic dementia with aphasic clinical features, as well as frontal dysexecutive syndrome. There was a family history of dementia with an autopsy diagnosis of \u201cPick's disease\u201d in the proband's father. Neuroimaging of the patient revealed focal and severe temporal lobe and lesser frontoparietal lobe atrophy. At autopsy, there was severe frontotemporal lobar degeneration. Histologic evaluation revealed an absence of tau or transactivation response DNA\u2010binding protein of 43 kDa (TDP) pathology but rather severe Lewy body deposition in the affected cortices. Genetic phenotyping revealed a novel missense mutation (p.E83Q) in exon 4 of the gene encoding \u03b1\u2010synuclein (<jats:italic>SNCA<\/jats:italic>). This case study presents a patient with a novel <jats:italic>SNCA<\/jats:italic> E83Q mutation associated with widespread Lewy body pathology with prominent severe atrophy of the frontotemporal lobes and corresponding cognitive impairment.<\/jats:p>","DOI":"10.1111\/neup.12687","type":"journal-article","created":{"date-parts":[[2020,8,13]],"date-time":"2020-08-13T06:10:25Z","timestamp":1597299025000},"page":"620-626","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":54,"title":["A novel <i>SNCA<\/i> E83Q mutation in a case of dementia with Lewy bodies and atypical frontotemporal lobar degeneration"],"prefix":"10.1111","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1911-8482","authenticated-orcid":false,"given":"Alifiya","family":"Kapasi","sequence":"first","affiliation":[{"name":"Rush Alzheimer's Disease Center Rush University Medical Center  Chicago Illinois USA"},{"name":"Department of Pathology Rush 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